Overview
LMNA-related cardiocutaneous progeria syndrome is an extremely rare genetic condition caused by changes (mutations) in the LMNA gene. This gene provides instructions for making proteins called lamins, which form a structural framework inside the nucleus of cells. When this gene is altered, it can lead to problems in multiple body systems, particularly the heart and skin. This syndrome combines features of premature aging (progeria) with heart disease and skin abnormalities. Affected individuals may develop tight, thickened, or aged-looking skin, hair loss or thinning, and changes in body fat distribution. Heart problems are a major concern and can include dilated cardiomyopathy (a weakened, enlarged heart), heart rhythm abnormalities, and heart failure. Other features may include joint stiffness, muscle weakness, and skeletal changes. Because this condition is so rare, there is no specific cure. Treatment focuses on managing symptoms, especially heart-related complications. Regular monitoring by a team of specialists is essential. Medications for heart failure, devices for abnormal heart rhythms, and supportive skin care are part of the management approach. Early diagnosis through genetic testing can help guide treatment and monitoring plans.
Also known as:
Key symptoms:
Aged-looking or tight skinHair loss or thinning hairWeakened and enlarged heart (dilated cardiomyopathy)Abnormal heart rhythmsHeart failureLoss of fat under the skinJoint stiffness or contracturesMuscle weaknessShort stature or growth delaySkeletal abnormalitiesThin or fragile skinPremature aging appearanceNail changes or abnormalities
Clinical phenotype terms (27)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for LMNA-related cardiocutaneous progeria syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for LMNA-related cardiocutaneous progeria syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to LMNA-related cardiocutaneous progeria syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the current condition of my (or my child's) heart, and how often should it be monitored?,What specific LMNA mutation was found, and does it tell us anything about how the disease might progress?,What medications are recommended, and what side effects should I watch for?,Are there any activity restrictions I should follow because of the heart condition?,Should other family members be tested for this genetic change?,Are there any clinical trials or research studies we could participate in?,What emergency signs should prompt me to go to the hospital immediately?
Common questions about LMNA-related cardiocutaneous progeria syndrome
What is LMNA-related cardiocutaneous progeria syndrome?
LMNA-related cardiocutaneous progeria syndrome is an extremely rare genetic condition caused by changes (mutations) in the LMNA gene. This gene provides instructions for making proteins called lamins, which form a structural framework inside the nucleus of cells. When this gene is altered, it can lead to problems in multiple body systems, particularly the heart and skin. This syndrome combines features of premature aging (progeria) with heart disease and skin abnormalities. Affected individuals may develop tight, thickened, or aged-looking skin, hair loss or thinning, and changes in body fat
How is LMNA-related cardiocutaneous progeria syndrome inherited?
LMNA-related cardiocutaneous progeria syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.